A new allelic variant of rigid spine syndrome
- Authors: Dadali E.L.1, Kadnikova V.A.1, Sharkova I.V.1, Polyakov A.V.1
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Affiliations:
- Research Centre for Medical Genetics
- Issue: Vol 42, No 8 (2016)
- Pages: 850-853
- Section: Article
- URL: https://journals.rcsi.science/0362-1197/article/view/176984
- DOI: https://doi.org/10.1134/S0362119716080041
- ID: 176984
Cite item
Abstract
Description of clinical features of the disease in a four-year-old boy with rigid spine syndrome is presented. Molecular genetic analysis revealed an unknown homozygous mutation 988delC in SEPN1 gene (coding for selenoprotein N) in this patient. In contrast to previously described selenoprotein-associated cases of the disease, our patient exhibited early involvement of muscles of the shoulder and the pelvic girdles in the course of the disease.
Keywords
About the authors
E. L. Dadali
Research Centre for Medical Genetics
Author for correspondence.
Email: genclinic@yandex.ru
Russian Federation, Moscow, 115478
V. A. Kadnikova
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
Russian Federation, Moscow, 115478
I. V. Sharkova
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
Russian Federation, Moscow, 115478
A. V. Polyakov
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
Russian Federation, Moscow, 115478